Charlottesville, VA – The Bow Foundation today announced a total of $300,000 in grants to fund three new projects to advance medical research into GNAO1-related disorders, a rare neurological genetic condition with no common name. The Bow Foundation grant program is administered in partnership with the Orphan Disease Center at the University of Pennsylvania.
To date, roughly 400 children around the world have been diagnosed with a GNAO1–related genetic disorder. Children with the disease suffer from a range of symptoms, including severe developmental delays, seizures and uncontrolled muscle movements.
“As we work to build a better tomorrow for GNAO1 patients around the globe, funding these new projects is an important milestone,” said Emily Bell and Alice Fox, co-chairs of the Bow Foundation. “It builds on existing research and will help scientists across the globe better understand the complexities, nuances and treatment options for GNAO1. We’re thrilled to be able to take this important step to jumpstart these projects.”
The newly funded projects include:
- $100,000 for a preclinical GNAO1 treatment trial
- Dr. Jennifer Friedman of the University of California San Diego and Rady Children’s Hospital is partnering with the n-Lorem Foundation to support the administration of an experimental antisense oligonucleotide (ASO) medicine that targets the GNAO1 gene. Funding from the Bow Foundation will help Dr. Friedman collect and evaluate the clinical observations of this cutting-edge treatment, including changes in baseline over time and data from predetermined outcome measures. This preclinical work will allow the research team to determine if ASO treatments for other GNAO1 patients are a viable approach for other patients.
- $100,000 for further research into the mechanisms of dystonia
- Professor Kirill Martemyanov at University of Florida Scripps Institute for Biomedical Innovation and Technology will help advance scientific understanding about the mechanisms of dystonia. Many GNAO1 patients suffer from dystonia, commonly known as involuntary muscle movements. Bow Foundation funding will allow Martemyanov to use a mouse model to shine light on the impact of GNAO1 on dystonia and brain signals while also testing possible treatment strategies.
- $100,000 to further iSPC research and advance patient-specific treatments
- Dr. Harald Mikkers of Leiden University Medical Center in the Netherlands will work to advance and improve a state-of-the-art personalized medicine tool for GNAO1. He will use funding from the Bow Foundation to create a validated stem cell GNAO1 model that opens the doors to various drug screening efforts. The work will investigate how GNAO1 impacts neurons and evaluate the suitability of the iPSC-based model for testing of therapeutics and drug responses.
The Bow Foundation has fundraised and supported over a million dollars in GNAO1 research since launching in 2017. GNAO1 families and the Bow Foundation worked together to raise funds that made this research possible.
The Bow Foundation is a volunteer-run 501(c)3 dedicated to supporting GNAO1 families through enhanced research and increased awareness. The foundation was launched in April of 2017 by two families who have children with a GNAO1 disorder. Visit www.BowFoundation.org to learn more or donate.